Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein.
D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism; D018698:Glutamic Acid / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010641:Phenotype; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid
D016189:Dystrophin; D018698:Glutamic Acid